Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the WDR73 gene, and more recently, four new pathog...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2023-09-01
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| Series: | Case Reports in Nephrology and Dialysis |
| Subjects: | |
| Online Access: | https://beta.karger.com/Article/FullText/533580 |